| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Cone-rod dystrophy 13 (RPGRIP1) | Cone-rod dystrophy, Photophobia, Progressive visual loss | Autosomal Recessive | 14q11.2 | Missense | RPGRIP1 | c.2656C>T | Leu886Phe | Amino acid substitution | 2015/Saqib et al. 2015 |
